#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NormalRefReads_WU	i_NormalVAF_WU	i_NormalVarReads_WU	i_ORegAnno_bin	i_RNARefReads_WU	i_RNAVAF_WU	i_RNAVarReads_WU	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TumorRefReads_WU	i_TumorVAF_WU	i_TumorVarReads_WU	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
CROCC	9696	genome.wustl.edu	37	1	17250900	17250900	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr1:17250900G>A	ENST00000375541.5	+	3	346	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGTCCCGCGTGGAGGACCT	0.657																																						dbGAP											0			1																																								17123487	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.277G>A	1.37:g.17250900G>A	ENSP00000364691:p.Val93Met	Somatic	33	5.71	2		2	50.00	2	WXS	Illumina HiSeq	Phase_IV	17123487	72	25.77	25		Missense_Mutation	SNP	superfamily_Prefoldin	p.V93M	ENST00000375541.5	37	c.277	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377434	0.42105	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.13089	2.62	4.88	1.8	0.24995	.	.	.	.	.	T	0.12689	0.0308	L	0.47716	1.5	0.28335	N	0.921594	P	0.52170	0.951	B	0.42916	0.402	T	0.13176	-1.0519	9	0.40728	T	0.16	.	7.4177	0.27055	0.0897:0.3265:0.5838:0.0	.	93	Q5TZA2	CROCC_HUMAN	M	93;64	ENSP00000364691:V93M	ENSP00000364691:V93M	V	+	1	0	CROCC	17123487	0.747000	0.28283	0.772000	0.31596	0.986000	0.74619	1.017000	0.29989	0.529000	0.28599	0.591000	0.81541	GTG	-	NULL		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17123487	+1	no_errors	NM_014675.3	genbank	human	validated	54_36p	missense	SNP	0.916	A
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56.0	51.0	53.0		2645,2078,2645	5.7	1.0	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	Somatic	44	26.23	16		12	67.57	25	WXS	Illumina HiSeq	Phase_IV	25310746	58	51.26	61	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
STXBP5L	9515	genome.wustl.edu	37	3	121097619	121097619	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr3:121097619C>T	ENST00000273666.6	+	22	2576	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	STXBP5L_ENST00000472879.1_Missense_Mutation_p.R745C|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R769C|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R745C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	769					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTCTGGAAAACGTCTTTCTAG	0.463																																						dbGAP											0			3											62.0	58.0	59.0					3																	121097619		1874	4103	5977	122580309	SO:0001583	missense	0			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2305C>T	3.37:g.121097619C>T	ENSP00000273666:p.Arg769Cys	Somatic	105	12.40	15		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	122580309	48	41.46	34	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.R769C	ENST00000273666.6	37	c.2305	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306250	0.60305	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	T;T;T;T	0.64085	1.52;-0.08;-0.08;-0.08	5.07	5.07	0.68467	.	0.254461	0.39210	N	0.001434	T	0.64382	0.2593	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	P;P	0.51806	0.68;0.586	T	0.68194	-0.5473	10	0.62326	D	0.03	-11.9652	17.7945	0.88565	0.0:1.0:0.0:0.0	.	745;769	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	C	769;745;745;769	ENSP00000273666:R769C;ENSP00000420019:R745C;ENSP00000419627:R745C;ENSP00000420666:R769C	ENSP00000273666:R769C	R	+	1	0	STXBP5L	122580309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.394000	0.66285	2.514000	0.84764	0.585000	0.79938	CGT	-	NULL		0.463	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	protein_coding	OTTHUMT00000355256.3	C			122580309	+1	no_errors	NM_014980.2	genbank	human	validated	54_36p	missense	SNP	1.000	T
ADCY5	111	genome.wustl.edu	37	3	123071313	123071313	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr3:123071313G>A	ENST00000462833.1	-	2	2462	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	ADCY5_ENST00000491190.1_Missense_Mutation_p.A50V|ADCY5_ENST00000470367.1_5'UTR|ADCY5_ENST00000309879.5_Missense_Mutation_p.A67V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	417					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTGGAGCCGCGCCTGGATGCA	0.617																																						dbGAP											0			3											58.0	58.0	58.0					3																	123071313		2203	4300	6503	124554003	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1250C>T	3.37:g.123071313G>A	ENSP00000419361:p.Ala417Val	Somatic	58	6.35	4		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	124554003	43	42.67	32	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1	p.A417V	ENST00000462833.1	37	c.1250	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950086	0.92660	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.81330	-1.05;-1.48;-1.47	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	D	0.86108	0.5854	M	0.62154	1.92	0.80722	D	1	P;D	0.71674	0.907;0.998	B;P	0.61328	0.223;0.887	T	0.82317	-0.0517	10	0.16896	T	0.51	.	18.4045	0.90529	0.0:0.0:1.0:0.0	.	417;50	O95622;B3KWA8	ADCY5_HUMAN;.	V	417;50;67	ENSP00000419361:A417V;ENSP00000418537:A50V;ENSP00000308685:A67V	ENSP00000308685:A67V	A	-	2	0	ADCY5	124554003	1.000000	0.71417	0.971000	0.41717	0.946000	0.59487	7.647000	0.83462	2.571000	0.86741	0.561000	0.74099	GCG	-	NULL		0.617	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	protein_coding	OTTHUMT00000355889.4	G	XM_171048		124554003	-1	no_errors	NM_183357.1	genbank	human	validated	54_36p	missense	SNP	0.999	A
SYT15	83849	genome.wustl.edu	37	10	46968665	46968665	+	Silent	SNP	G	G	A	rs200814731	byFrequency	TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr10:46968665G>A	ENST00000374321.4	-	3	337	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	SYT15_ENST00000374325.3_Silent_p.L91L|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Silent_p.L91L|SYT15_ENST00000374323.4_Silent_p.L144L	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCACTGTGCAGGGGCACCCAA	0.632													G|||	469	0.0936502	0.1051	0.0764	5008	,	,		35813	0.0496		0.1282	False		,,,				2504	0.1002				Ovarian(57;1152 1428 19651 37745)	dbGAP											0			10						G	,	277,3977		0,277,1850	55.0	65.0	62.0		271,271	2.7	0.2	10	dbSNP_132	62	613,7885		0,613,3636	no	coding-synonymous,coding-synonymous	SYT15	NM_031912.4,NM_181519.2	,	0,890,5486	AA,AG,GG		7.2135,6.5115,6.9793	,	91/422,91/391	46968665	890,11862	2127	4249	6376	46388671	SO:0001819	synonymous_variant	0			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.271C>T	10.37:g.46968665G>A		Somatic	26	7.14	2		1	0.00	0	WXS	Illumina HiSeq	Phase_IV	46388671	92	21.37	25	A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Silent	SNP	HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),PatternScan_CNMP_BINDING_1	p.L91	ENST00000374321.4	37	c.271	CCDS44376.1	10																																																																																			-	NULL		0.632	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT15	protein_coding	OTTHUMT00000367008.1	G	NM_031912		46388671	-1	no_errors	NM_031912.3	genbank	human	reviewed	54_36p	silent	SNP	0.005	A
TSGA10IP	254187	genome.wustl.edu	37	11	65715566	65715566	+	RNA	SNP	C	C	T			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr11:65715566C>T	ENST00000532620.1	+	0	1329				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						ATGAAACTTTCGTGTCTGCCA	0.562																																						dbGAP											0			11											36.0	35.0	36.0					11																	65715566		1952	4129	6081	65472142			0			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715566C>T		Somatic	143	8.86	14		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	65472142	107	34.36	56	Q3SXZ9|Q3SY01|Q96M26	Silent	SNP	NULL	p.F366	ENST00000532620.1	37	c.1098		11																																																																																			-	NULL		0.562	TSGA10IP-001	KNOWN	basic	processed_transcript	TSGA10IP	polymorphic_pseudogene	OTTHUMT00000391373.2	C	NM_152762		65472142	+1	pseudogene	NM_152762.2	genbank	human	validated	54_36p	silent	SNP	0.005	T
DNAH10	196385	genome.wustl.edu	37	12	124298029	124298029	+	Missense_Mutation	SNP	C	C	T	rs138397621	byFrequency	TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr12:124298029C>T	ENST00000409039.3	+	19	3134	c.3109C>T	c.(3109-3111)Cgc>Tgc	p.R1037C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1037	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R1037C(1)|p.R855C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGAGGTTATGCGCCACCCTCT	0.443																																						dbGAP											2	Substitution - Missense(2)	lung(2)	12						C	CYS/ARG	0,4406		0,0,2203	93.0	87.0	89.0		3109	5.8	0.1	12	dbSNP_134	89	6,8594	5.0+/-18.6	0,6,4294	yes	missense	DNAH10	NM_207437.3	180	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	benign	1037/4472	124298029	6,13000	2203	4300	6503	122863982	SO:0001583	missense	0			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3109C>T	12.37:g.124298029C>T	ENSP00000386770:p.Arg1037Cys	Somatic	154	13.81	25		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	122863982	107	42.16	78	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	HMMPfam_DHC_N1	p.R855C	ENST00000409039.3	37	c.2563	CCDS9255.2	12	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935330	0.34189	0.0	6.98E-4	ENSG00000197653	ENST00000409039	T	0.22743	1.94	5.83	5.83	0.93111	.	0.186131	0.36200	N	0.002740	T	0.31575	0.0801	L	0.39898	1.24	0.09310	N	0.999991	P;B;P	0.49559	0.925;0.437;0.738	P;B;B	0.50617	0.646;0.276;0.39	T	0.05835	-1.0861	10	0.59425	D	0.04	.	20.1374	0.98035	0.0:1.0:0.0:0.0	.	1037;912;1037	Q8IVF4-2;C4IXU6;Q8IVF4	.;.;DYH10_HUMAN	C	1037	ENSP00000386770:R1037C	ENSP00000386770:R1037C	R	+	1	0	DNAH10	122863982	0.011000	0.17503	0.145000	0.22337	0.004000	0.04260	2.501000	0.45389	2.763000	0.94921	0.563000	0.77884	CGC	-	NULL		0.443	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	protein_coding	OTTHUMT00000335420.3	C			122863982	+1	no_errors	NM_207437.3	genbank	human	validated	54_36p	missense	SNP	0.078	T
CBFB	865	genome.wustl.edu	37	16	67070608	67070608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr16:67070608C>T	ENST00000290858.6	+	3	493	c.232C>T	c.(232-234)Cga>Tga	p.R78*	CBFB_ENST00000561924.2_5'UTR|CBFB_ENST00000412916.2_Nonsense_Mutation_p.R78*	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	78					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GGGAGAACAGCGACAAACACC	0.433			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0			16											87.0	86.0	87.0					16																	67070608		2200	4300	6500	65628109	SO:0001587	stop_gained	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.232C>T	16.37:g.67070608C>T	ENSP00000290858:p.Arg78*	Somatic	54	12.90	8		20	22.22	6	WXS	Illumina HiSeq	Phase_IV	65628109	37	53.16	42	A8K347|Q13124|Q9HCT2	Nonsense_Mutation	SNP	HMMPfam_CBF_beta,superfamily_CBF_beta	p.R78*	ENST00000290858.6	37	c.232	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	C	38	6.885485	0.97908	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-9.187	17.6063	0.88039	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000290858:R78X	R	+	1	2	CBFB	65628109	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.308000	0.59129	2.563000	0.86464	0.650000	0.86243	CGA	-	HMMPfam_CBF_beta,superfamily_CBF_beta		0.433	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	protein_coding	OTTHUMT00000268843.2	C	NM_001755		65628109	+1	no_errors	NM_022845.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
DNMT1	1786	genome.wustl.edu	37	19	10287990	10287990	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr19:10287990T>A	ENST00000340748.4	-	5	734	c.499A>T	c.(499-501)Atc>Ttc	p.I167F	DNMT1_ENST00000540357.1_Missense_Mutation_p.I167F|DNMT1_ENST00000359526.4_Missense_Mutation_p.I183F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	167	Interaction with DNMT3B.|Interaction with PCNA.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TGAGATGTGATGGTGGTTTGC	0.443																																						dbGAP											0			19											162.0	144.0	150.0					19																	10287990		2203	4300	6503	10148990	SO:0001583	missense	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.499A>T	19.37:g.10287990T>A	ENSP00000345739:p.Ile167Phe	Somatic	173	12.56	25		97	35.76	54	WXS	Illumina HiSeq	Phase_IV	10148990	64	51.52	68	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_DNA_methylase,HMMPfam_zf-CXXC,HMMPfam_DMAP_binding,PatternScan_C5_MTASE_1,PatternScan_C5_MTASE_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases	p.I167F	ENST00000340748.4	37	c.499	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	t	20.2	3.954973	0.73902	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.35236	1.32;1.58;1.58	5.26	5.26	0.73747	.	0.121243	0.53938	D	0.000051	T	0.49029	0.1533	L	0.47190	1.495	0.39850	D	0.973222	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.64776	0.929;0.929;0.852	T	0.49153	-0.8969	10	0.45353	T	0.12	.	11.901	0.52685	0.0:0.0:0.0:1.0	.	167;183;167	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	F	183;167;167;35	ENSP00000352516:I183F;ENSP00000440457:I167F;ENSP00000345739:I167F	ENSP00000345739:I167F	I	-	1	0	DNMT1	10148990	1.000000	0.71417	0.975000	0.42487	0.529000	0.34654	3.793000	0.55484	2.125000	0.65367	0.524000	0.50904	ATC	-	NULL		0.443	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	protein_coding	OTTHUMT00000451166.1	T	NM_001379		10148990	-1	no_errors	NM_001379.1	genbank	human	reviewed	54_36p	missense	SNP	0.993	A
PTPRT	11122	genome.wustl.edu	37	20	40710553	40710553	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_I	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina GAIIx	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr20:40710553C>T	ENST00000373187.1	-	30	4240	c.4241G>A	c.(4240-4242)cGt>cAt	p.R1414H	PTPRT_ENST00000373198.4_Missense_Mutation_p.R1433H|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1413H|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1404H|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1423H|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1417H|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1424H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTGTTGTTACGCAGTGTTTT	0.507																																						dbGAP											0			20											186.0	187.0	186.0					20																	40710553		2090	4220	6310	40143967	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4241G>A	20.37:g.40710553C>T	ENSP00000362283:p.Arg1414His	Somatic	116	14.60	20		NA	NA	NA	WXS	Illumina HiSeq	Phase_IV	40143967	67	48.09	63	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II	p.R1433H	ENST00000373187.1	37	c.4298	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.487204	0.96323	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98243	1.0489	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1436;1414	O14522-1;O14522	.;PTPRT_HUMAN	H	1413;1414;1417;1423;1436;1424;1404	ENSP00000362286:R1413H;ENSP00000362283:R1414H;ENSP00000362289:R1417H;ENSP00000348408:R1423H;ENSP00000362294:R1436H;ENSP00000362280:R1424H;ENSP00000362297:R1404H	ENSP00000348408:R1423H	R	-	2	0	PTPRT	40143967	1.000000	0.71417	0.040000	0.18447	0.943000	0.58893	7.792000	0.85828	2.884000	0.98904	0.655000	0.94253	CGT	-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II		0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	C			40143967	-1	no_errors	NM_133170.5	genbank	human	reviewed	54_36p	missense	SNP	0.836	T
